Article
Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations.
The Journal of clinical endocrinology and metabolism - 1 Jan 1999
Nimkarn S, Cerame B I, Wei J Q, Dumic M, Zunec R, Brkljacic L, Skrabić V, New M I, Wilson R C
Abstract excerpt
Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is the most common inherited defect of adrenal steroid biosynthesis. At least 36 mutations in the CYP21 gene, which is mapped to chromosome 6p21.3, have been described. We performed genetic analysis of the CYP21 gene in a patient with classic 21-OHD CAH and her family. The entire exonic coding regions and intronic regions, as well as...
Topics
- Adrenal Hyperplasia, Congenital
- Adrenocorticotropic Hormone
- Child, Preschool
- Female
- Humans
- Mutation
- Steroid 11-beta-Hydroxylase
- Steroid 21-Hydroxylase